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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs227282          
refSNP ID: rs227282
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_005908.3:c.960+3845G>T
NT_016354.18:g.28154631C>A
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss1948566 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs227282 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss294436KWOK|OVLP-000621-289845rev/TA/Cttgaaatcattgcaaacttgtaataaagttcaacaataatacaaagaactcctatatata06/30/0010/10/0379Genomic97 %
ss474197SC_JCM|AC024629.1_115879fwd/BG/Ttatatataggagttctttgtattattgttgaactttattacaaatttgcaatgatttcaa07/12/0010/10/0389Genomicunknown
ss1042346KWOK|OVLP-000804-567004fwd/BG/Ttatatataggagttctttgtattattgttgaactttattacaagtttgcaatgatttcaa09/02/0010/10/0386Genomic97 %
ss1948566KWOK|OVLP-000925-207577fwd/BG/Ttatatataggagttctttgtattattgttgaactttattacaagtttgcaatgatttcaa10/06/0010/10/0389Genomic97 %
ss20191661CSHL-HAPMAP|CSHL-HuFF-200402.chr4.NT_016354.16_28101615rev/TA/Cttgaaatcattgcaaacttgtaataaagttcaacaataatacaaagaactcctatatata02/21/0403/04/04120Genomicunknown
ss22083267SSAHASNP|WGSA-200403-chr4.chr4.NT_016354.16_28101615rev/TA/Cttgaaatcattgcaaacttgtaataaagttcaacaataatacaaagaactcctatatata03/20/0403/20/04121Genomicunknown
ss77704099HGSV|Cor12156_SNV_20070510.chr4_103964089rev/TA/Cttgaaatcattgcaaacttgtaataaagttcaacaataatacaaagaactcctatatata10/09/0710/14/07129Genomicunknown
ss84732961HGSV|Cor19240_SNV_20070510.chr4_103964089rev/TA/Cttgaaatcattgcaaacttgtaataaagttcaacaataatacaaagaactcctatatata11/30/0712/07/07130Genomicunknown
ss92711126BCMHGSC_JDW|JWB-1828053rev/TA/Cttgaaatcattgcaaacttgtaataaagttcaacaataatacaaagaactcctatatata02/26/0803/03/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs227282|allelePos=229|totalLen=1685|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 ACACAAGGGC CTTCAGTCTT CAGTCTTCAG TCTTCAATCT Actataatct tcaaaaatgt
 caaggaaaga ttgaggaact gtcctacagt ggaagagact atgtacgaac tgggtgcagt
 gcagtgatct tTTTTGTCAT AATGTTATTG GGGCAACTGA TGAAAACTTG AATGGGGGGG
 TCTCTGGATT CTTTGTATTA TATATAGGAG TTCTTTGTAT TATTGTTG
 K
 AACTTTATTA CAAGTTTGCA ATGATTTCAA CATAGAAAAG GATACCATTA AGAGAATGGA
 AAGCAACAGC AAAATCCTGA TGGAAAGGGG CCAGTAGCGA GGGAAAGACT AAAAAGAGTT
 AGAAAGCAGG GAGGTAGTTG AGAGGGCAAG GTCTCTGGGA GGTAGGAGAT AAGAAGAGGA
 TGGATTCACT TTGGGATGGG GGGCTCTGTT TTCGTTGTAA TAGTGGTGAA AGATAACACA
 TGGGAGGAAA GGATGCAGCT TGAGGATGGA GGTAATTTTG AAGGTCTCTA GGACCATTTA
 AAGTATATTT TCTTTCTATA AGACTGGCAA ACACTTTTGT CAGTGGAGTT TTAGGGTGAA
 AAAGTAAGCC TGAGAAAGAA AGCTAGGGAG TTTTGGTCAA ACAACATTTT ATtttttatt
 tattgtgaaa tatgacacat acagaaaaat acacaagcca taagtgaaaa gcttaatgaa
 ttatgagaaa atgaacactc aggtaactgt caacatgttc aagaaacaga acattaatta
 ctagcacttc acacctcaaa ctctcccctc ccttctgcga gcctccccag taatgacccc
 tgtttccttc ccgaagatcc actatcctga catccatcac taggttactt ttgtctcttt
 ttgaatttta tgtacatgga accatatagc atgtattttt tagtgtgtgg ctaatttggc
 tcagcattat gtttttgaca ttTAGGTACA GTAGTGCCTC CTTAtctgtg gtttcagtta
 cccatggtca actgtggtct gaaaatagta aatggaaaac tccagaaata agcaattcat
 gagttttaaa ttgctcactg ttctgtgtag catgatggca tctcgtgctg tcctgccctg
 tcttgtccag gacatgaatc atcgctttgt tgagcatatc cttgctgtat acattatcca
 cctgttagtc actcagcagc cttctcctTT ATCAGacaga aaaagtcata gtatatatgg
 ggttcggtac tatctgcagt ttcaggcacc tactgggggt cttggagcgt atcccctgca
 gataaggggg gactgctgTT TATTGTTCTG TGTAACTGTA AGTTTGTCTA TTTAAGTTGT
 ATAAAATTTT ATTATACTAC Acattttgct gttgcaattt gagtagttgc cagttttggc
 tattccaagt aatgctgctg tgaacattac tgatataaca ctcggagcac atatgccccc
 aacggcatgt ctgctgggag tggaatggca tgattatgga ggatgcatga gttcagcttt
 gtagattatg ctaaactgcc atccaaagtg gttataTGAG ACTTGCCTAG GCTCCTCATG
 CTCGCCAGCA CTTGGTACTG TGTCAGACAG GACATTGAAC ACTGTTTTCT CATCACCAGC
 CCCTCCTTAT TTCACC

  GeneView back to top
GeneView via analysis of contig annotation: MANBA mannosidase, beta A, lysosomal
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_016354->NM_005908
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_016354->NM_005908->NP_00589928154631reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs227282 maps exactly once on NCBI human chromosome 4
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
4NW_001838915.12810455499343004minusAalt_assembly_8HuRefHuRefview228
4NW_922162.150731114100906140minusAalt_assembly_1CeleraCeleraview228
4NT_016354.1828154631103825934minusCref_assemblyreferencereferenceview228

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_016354 AF224669 AF224669.1
dbSNP Blast Analysis

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .